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Diagnosis and treatment of Wilson disease: An update


Wilson's illness is an autosomal dominant impairment of copper metabolism that results from the lack of or dysfunction of a copper-transporting P-type ATPase, which is expressed on chromosome 13. This ATPase is a component of the trans-Golgi network and is carried by hepatocytes. It transports copper into the secretory route where it is combined with ceruloplasmin and excreted as bile. Affected people gradually develop copper accumulation in the liver since the only pathway for copper excretion in physiological settings is through biliary clearance. Hepatocytes experience cell death when their storage capacity is exceeded, which causes hemolysis, copper leakage into the plasma, and tissue deposition. Children might experience rapid liver failure, silent cirrhosis, or chronic hepatitis. Among the neuropsychiatric symptoms induced by copper overload in the central nervous system that are frequently seen in young people are dystonia, tremors, temperamental disorders, and cognitive deficiencies. Test results showing lower ceruloplasmin levels in serum, elevated urine copper concentration, and elevated intrahepatic copper percentage indicate Wilson's illness. Because there are more than 100 distinct mutations and most people are compound heterozygotes, molecular genetic analysis is difficult. Copper treatment with penicillamine is a successful therapy for the vast number of patients, and liver transplantation is beneficial in situations of chronic liver failure. The molecular genetic causes of Wilson's disease have shed new light on the mechanisms governing cellular copper homeostasis.


Ajit Pal Singh, Jyoti Batra, Sharafat Shafi Khan, Rahul Saxena, Suyash Saxena. Diagnosis and treatment of Wilson disease: An update. Cardiometry; Issue 25; December 2022; p.1397-1400; DOI: 10.18137/cardiometry.2022.25.13971400; Available from:

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